Cystic fibrosis gene therapy

Cystic fibrosis is often a fatal disease. It is the most common genetic disease that affects infants and children today. There are over 30,000 people in the United States alone who have cystic fibrosis. It is passed to children from parents who are carriers of the disease. In order for a child to contract cystic fibrosis, both parents must be carriers. People who are carriers are more common than most believe, however. 1 in every 30 people will be a carrier for cystic fibrosis. Children of parents who are both carriers of the disease have a 25% chance of contracting the disease and a 50% chance of becoming a carrier of cystic fibrosis.

There are tests for cystic fibrosis that can be performed on infants or young children who are suspected of having this disease. The sweat test is the easiest way to test for CF. If the sweat contains an excess amount of salt, then CF may be the problem. There are also screening tests that can be done prior to birth for couples who are concerned. Carrier testing of the blood or saliva can be done for parents who want to find out if they are carriers of cystic fibrosis. Chorionic villi sampling can be done on the fetus in the 11th week of pregnancy to test for cystic fibrosis. Genetic counseling is suggested for parents who are found to be carriers of the disease.

Cystic fibrosis results from a defective gene which is called the Cystic Fibrosis Transmembrane Regulator gene. Scientists isolated this gene in 1989. This was the first step in learning how to repair the defective gene that causes this terrible disease. In a normal cell, the Cystic Fibrosis Transmembrane Regulator protein works as a regulator in allowing chloride and other ions to be released from the cell membrane. People who have cystic fibrosis contain defective proteins and their cells do not release the chlorides as they should. This causes them to make thick, sticky mucus in the lungs and breathing passages. It also results in an imbalance of salt in the body.

After isolating the gene that causes cystic fibrosis, scientists were able to repair the defective gene in early 1990. They then had to find a vector or a way to introduce the corrected gene into the body. The first attempts were done using a cold virus as the vector to get into the lung tissue. They wanted to target the lungs as this is one of the main areas of the body that cystic fibrosis attacks. They have since then used other vectors such as fat cells and placing cells down a tube into the lung tissue itself. The researchers are now working on ways to introduce the cells into the lungs using nebulizer treatments. They hope in the future to be able to use gene therapy to combat the disease in other organs of the body that the disease affects.

There is now research into the cystic fibrosis gene therapy to see if they can use what they have learned to possibly help treat cystic fibrosis as well. Scientists at the University of Washington have mapped out the genetic map of the pseudomonas aeruginosa bacteria. This bacteria is the most common cause of serious and often fatal lung infections in people who have cystic fibrosis. They hope to use this knowledge to develop new drugs to treat infections caused by this bacteria.

The researchers are very excited about this gene therapy as it does not treat the symptoms of cystic fibrosis but attacks the issue of cystic fibrosis itself at the present time. By correcting or repairing the defective gene that causes the disease, they hope to reverse the effects of this deadly disease. For many years, this disease was the demise of many children and young adults. There is no cure for this disease at present so the promising results of the new gene therapy is excellent news for those who have cystic fibrosis and their families.

Last updated on Mar 6th, 2011 and filed under Other Conditions & Diseases. Both comments and pings are currently closed.

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